A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519654



Internal ID296001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52113436..52116717hg38UCSC Ensembl
chr16:52147348..52150629hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383282
hg193282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707426
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519654
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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